Product Details

SNP ID

rs200577968

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:3225153 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGGAGGCTTGGTTGCACGCCAGT[C/T]TCGAGAACAGGCTGCATGCAGCCCA

Phenotype

MIM: 601337

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RFX3 PubMed Links

Gene Details

Gene

RFX3

Gene Name

regulatory factor X3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282116.1	2460	Silent Mutation	GAA,GAG	E713E	NP_001269045.1
NM_001282117.1	2460	Intron			NP_001269046.1
NM_002919.3	2460	Intron			NP_002910.1
NM_134428.2	2460	Silent Mutation	GAA,GAG	E713E	NP_602304.1
XM_006716840.1	2460	Silent Mutation	GAA,GAG	E744E	XP_006716903.1
XM_006716843.1	2460	Silent Mutation	GAA,GAG	E734E	XP_006716906.1
XM_006716844.1	2460	Silent Mutation	GAA,GAG	E734E	XP_006716907.1
XM_006716845.2	2460	Silent Mutation	GAA,GAG	E734E	XP_006716908.1
XM_006716847.3	2460	Silent Mutation	GAA,GAG	E456E	XP_006716910.1
XM_011517998.1	2460	Silent Mutation	GAA,GAG	E734E	XP_011516300.1
XM_011517999.1	2460	Silent Mutation	GAA,GAG	E734E	XP_011516301.1
XM_011518000.1	2460	Silent Mutation	GAA,GAG	E709E	XP_011516302.1
XM_011518001.1	2460	Silent Mutation	GAA,GAG	E651E	XP_011516303.1
XM_017015000.1	2460	Silent Mutation	GAA,GAG	E734E	XP_016870489.1
XM_017015001.1	2460	Silent Mutation	GAA,GAG	E688E	XP_016870490.1
XM_017015002.1	2460	Silent Mutation	GAA,GAG	E465E	XP_016870491.1

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